ClinVar Miner

Submissions for variant NM_000360.4(TH):c.523A>T (p.Lys175Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV002309020 SCV002602090 likely pathogenic Autosomal recessive DOPA responsive dystonia 2021-12-02 criteria provided, single submitter clinical testing NM_199292.2(TH):c.616A>T(K206*) is expected to be pathogenic in the context of tyrosine hydroxylase deficiency. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in TH, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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